Identification of a novel variant (c.1‐<scp>111A</scp>>G) located in <scp>GATA</scp>‐1 motif of <scp><i>RHCE</i></scp> proximal promoter in two Chinese patients with the rare D‐‐ phenotype
The novel variant of the GATA-1 motif of the RHCE proximal promoter was identified to diminish the binding of the GATA-1 transcription factor and markedly down-regulate the transcription activity of the RHCE gene to abolish the expression of RhCE antigens, causing the rare D-- phenotype.
Authors
- Catherine Tang (ORCID: https://orcid.org/0000-0002-0223-8341)
- Shuangshuang Jia (ORCID: https://orcid.org/0000-0002-0092-8576)
- Yanli Ji (ORCID: https://orcid.org/0000-0001-6792-5612)
- Jizhi Wen (ORCID: https://orcid.org/0000-0002-2147-5086)
- Qi Chen (ORCID: https://orcid.org/0000-0003-2692-1038)
- Ran Zhang (ORCID: https://orcid.org/0000-0003-2107-8133)
Institutions
- First Affiliated Hospital of Jiangxi Medical College (CN)
- Guangzhou Blood Center (CN)
- Jiangxi Provincial People's Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Transfusion
- Published
- 2025-03-23
- DOI
- https://doi.org/10.1111/trf.18223
- Citations
- 3
- Primary Topic
- Blood groups and transfusion
- Type
- article
- Field-Weighted Citation Impact
- 5.31
Funders
- National Natural Science Foundation of China